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Y de Prost

Publications and source records attributed to Y de Prost.

At least 37 records · Page 2Linked to original sources
PubMed1998

[Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type I].

BACKGROUND: Diagnosis of neurofibromatosis type I (NF-1) relies on the NIH consensus conference criteria. However, because of delayed penetrance, they are of limited value in infancy or early childhood. Less frequent signs, namely blue-red and fusco-ceruleus macules, may be clues for diagnosis. CASE REPORTS: We report on two children, aged 2 1/2 and 5, in whom these cutaneous findings were present early in childhood. In addition, they had sufficient criteria for NF1. DISCUSSION: These cutaneous signs, although infrequently reported, are present early in life. Hence they may be useful clues for diagnosis of NF-1 in childhood.

Cafe-au-Lait Spots↗
PubMed1998

[Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome].

BACKGROUND: Type I carbohydrate deficient glycoprotein (CDG) syndrome is an inborn hereditary error of metabolism with a broad clinical spectrum. It is characterized by partial N-glycan deficiency of glycoproteins. Skin features may be part of this syndrome in infancy. CASE REPORT: A male infant failed to thrive, presenting psychomotor retardation, liver disease and multiple biological abnormalities. Very suggestive prominent skin manifestations were noted including abnormal subcutaneous fat with lipoma-like pads on the lower back and buttocks, thickened orange-peel skin on the limbs, thinned proximal knuckles, inverted nipples. Deficient serum transferrin sialylation and phosphomannomutase deficiency were identified confirming type I CDG syndrome. DISCUSSION: Although inconstantly present, skin manifestations of type I CDG syndrome are very suggestive and may be the inaugural signs of the disease.

Acyl Carrier Protein↗
PubMed1997

Staphylococcal necrotizing fasciitis in the mammary region in childhood: a report of five cases.

OBJECTIVE: Necrotizing fasciitis is a highly lethal soft tissue infection rarely reported in childhood. The initiating site is usually a local trauma or a surgical wound. We observed five cases of necrotizing fasciitis the initiating site for which was the mammary region and discuss their management. STUDY DESIGN: We describe these five patients and review the clinical characteristics of their presentation. RESULTS: Staphylococcal necrotizing fasciitis was observed in the mammary region in all five cases. Four children were newborn infants with a mammitis preceding the onset of necrotizing fasciitis. Surgical débridement was done only after the fourth day from onset of illness. All children were discharged in good condition after 1 month. Two have been followed until puberty, with destruction of the mammary gland in one case and good development in the other one. CONCLUSION: Mammitis may be the initiating event for necrotizing fasciitis in neonates. Necrotizing fasciitis is a life-threatening disease; patients require early intensive care, parenteral antibiotic therapy, and surgical débridement. In a few instances surgery can be carefully delayed until the necrotic area is more delineated if the condition is diagnosed early during disease evolution and appropriate treatment is instituted in intensive care units.

Anti-Bacterial Agents↗
PubMed1997

[Treatment of acne].

The treatment of acne is based upon simple pathogenic arguments, but needs to be adapted to the type of acne. Patients must always be informed that it is long and difficult and that no significant response will be expected before 2 to 3 months of regular treatment. The authors present the different therapeutic agents and strategies. Isotretinoin should be used only in severe acne after failure of at least 3 months of a well conducted classical treatment and in nodulo-cystic acne; because of its major side effect of teratogenicity its use in adolescent girl's requires pregnancy testings before and during treatment and an effective contraception.

Acne Vulgaris↗
PubMed1997

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

We have characterized 21 mutations in the type VII collagen gene (COL7A1) encoding the anchoring fibrils, 18 of which were not previously reported, in patients from 15 unrelated families with recessive dystrophic epidermolysis bullosa (RDEB). COL7A1 mutations in both alleles were identified by screening the 118 exons of COL7A1 and flanking intron regions. Fourteen mutations created premature termination codons (PTCs) and consisted of nonsense mutations, small insertions, deletions, and splice-site mutations. A further seven mutations predicted glycine or arginine substitutions in the collagenous domain of the molecule. Two mutations were found in more than one family reported in this study, and six of the seven missense mutations showed clustering within exons 72-74 next to the hinge region of the protein. Patients who were homozygous or compound heterozygotes for mutations leading to PTCs displayed both absence or drastic reduction of COL7A1 transcripts and undetectable type VII collagen protein in skin. In contrast, missense mutations were associated with clearly detectable COL7A1 transcripts and with normal or reduced expression of type VII collagen protein at the dermo/epidermal junction. Our results provide evidence for at least two distinct molecular mechanisms underlying defective anchoring fibril formation in RDEB: one involving PTCs leading to mRNA instability and absence of protein synthesis, the other implicating missense mutations resulting in the synthesis of type VII collagen polypeptide with decreased stability and/or altered function. Genotype-phenotype correlations suggested that the nature and location of these mutations are important determinants of the disease phenotype and showed evidence for interfamilial phenotypic variability.

Alleles↗
PubMed1997

Epidermolysis bullosa acquisita in childhood.

BACKGROUND: Epidermolysis bullosa acquisita (EBA) is an autoimmune bullous disease characterized by the presence of antitype VII collagen antibodies, leading to the formation of bullae in the dermoepidermal junction. This disease is rare in childhood. OBSERVATIONS: We report 3 new cases of EBA in children. The 3 patients were similar; all 3 children were black, with a clinical phenotype resembling linear IgA bullous disease in children and typical histologic and immunologic features of EBA. In the 3 patients, diagnosis was proven using immune electron microscopy and Western blot analysis, where antitype VII collagen antibodies were demonstrated. Patients 1 and 2 were successfully treated with a combination of prednisone and dapsone. In patient 3, the lesions healed without specific therapy. We found 11 other pediatric cases of EBA in the literature and studied those cases in addition to the cases presented herein to describe the characteristics of EBA in childhood. CONCLUSIONS: Epidermolysis bullosa acquisita is a rare disease in childhood. Mucosal involvement is frequent and severe. Because the clinical features are misleading, the use of immune electron microscopy and Western blot analysis is essential to making a diagnosis. Treatment with a combination of prednisone and dapsone is often effective. The prognosis in children is better than it is in adult patients.

Adolescent↗
PubMed1996

[Dermatitis herpetiformis occuring in patients with celiac disease in childhood].

BACKGROUND: Dermatitis herpetiformis (DH) is a chronic papulovesicular immune-mediated disorder associated with gluten-sensitive enteropathy. We report eight cases in which DH appeared many years after celiac disease (CD) in child. PATIENTS AND METHODS: The diagnosis of CD was based on histological features of total or subtotal villous atrophy, full remission after withdrawal of gluten from the diet, and eventually circulating antibodies (IgA gliadin, antireticulin and antiendomysium) at the time of diagnosis and their disappearance under gluten-free diet. The diagnosis of DH was made from clinical findings, histological examination of the involved skin and direct immunofluorescence microscopy of normal or perilesional skin. HLA class II typing was performed in five patients. DRB1, DQA1, DQB1 and DBP1 alleles were studied. RESULTS: DH appeared between 3 and 22 years after the initial diagnosis of CD. Five patients did not show at that time any digestive symptoms. In three cases, a break in the gluten-free diet or a recent revival of the normal diet preceded the rash. In only one case, DH appeared while the patient was under gluten-free diet. In three patients, the rash appeared many years after the gluten-free diet had been stopped. Phenotype DR3 and/or DR7 of the celiac disease could be found in four of the five patients studied; three of them were found to bear DQW2. The DR2 allele was not found in any of the five tested patients. DISCUSSION: These eight cases illustrate the absence of precise nosological barrier between gluten-sensitive enteropathy of the DH and that observed in CD. The presence of the DR7 allele, and especially the absence of the DR2 allele, could explain the particularly severe and symptomatic course of the enteropathy in these patients. The delay in the appearance of DH, after a very variable period of normal diet, could correspond to the necessary time for progressive accumulation of IgA (or immune complex IgA-gluten) in the skin after a digestive sensitization to gluten. The preventive role of gluten-free diet is thus probable. CONCLUSION: CD and DH likely correspond to two different stages of the same disease, thus requiring a prolonged follow-up of both digestive and skin tissues. Long-term eviction of gluten to prevent eventual DH must be balanced with the demand and the cost of such a diet.

Celiac Disease↗
PubMed1996

[Rothmund-Thomson syndrome with reduced DNA repair capacity].

INTRODUCTION: Rothmund-Thomson syndrome is a genodermatosis associated with early poikilodermal lesions. The condition usually occurs in children. Features include skeletal deformations and increased risk of malignancy. CASE REPORT: A 3 and a half year-old girl with poikilodermal lesions predominating in photoexposed areas presented a rash after exposure to sun. The first manifestations occurred during the first months of life. Examination of DNA repair on a culture of UV irradiated fibroblasts showed reduced DNA repair capacity. DISCUSSION: Other childhood photodermatoses were eliminated by the clinical signs. It would be important to know whether there is a correlation between DNA repair and development of neoplasia in Rothmund-Thomson syndrome.

Child, Preschool↗
PubMed1995

[Treatment of atopic dermatitis].

There are three components in the treatment of atopic dermatitis: 1) a general treatment (mainly antibiotherapy directed towards Staphylococcus aureus during acute phases), 2) local treatment (local antiseptics, local steroids, emollients), 3) practical advice. In addition, it is of great importance that clear and complete information on the illness should be given to the parents.

Administration, Topical↗
PubMed1995

DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence.

Linkage analyses in generalized recessive dystrophic epidermolysis bullosa (RDEB) have implicated the type VII collagen gene (COL7A1), which encodes the major component of anchoring fibrils, and recent identification of COL7A1 mutations has provided direct evidence for COL7A1 defects underlying RDEB. In this study, COL7A1 gene analysis was used to successfully perform first-trimester prenatal diagnosis in six families at risk for recurrence of the disease. In four families, three affected with the most severe variant of RDEB (the Hallopeau-Siemens form, HS-RDEB) and one with generalized nonmutilating RDEB, prenatal diagnosis was established by linkage analysis using polymerase chain reaction-based detection of PvuII and AluI intragenic restriction fragment length polymorphism. In two other HS-RDEB families, prenatal diagnosis was carried out by direct detection of mutations in COL7A1, using denaturing gradient gel electrophoresis analysis of polymerase chain reaction-amplified genomic fragments. Analysis of fetal DNA from chorionic villus biopsy or from amniotic fluid cells showed that the fetus had inherited at least one normal COL7A1 allele in all cases. Therefore, the fetus was predicted to be unaffected in the six pregnancies, and this has been confirmed in the newborn infants. Genotype analysis with COL7A1 polymorphic markers, or direct COL7A1 mutation detection in families at risk for the disease, represent early and rapid diagnostic alternatives to second-trimester evaluation of fetal skin samples, and thus offer a major advance in prenatal diagnosis of this life-threatening form of epidermolysis bullosa.

Base Sequence↗
PubMed1994

Langerhans' cell histiocytosis cells are activated Langerhans' cells.

Langerhans' cell histiocytosis (LCH) is characterized by the presence of large mononucleated cells, associated with inflammatory cells. The Langerhans' cell (LC) lineage of the mononucleated cells is suggested by the presence of Birbeck granules and the expression of CD1a. We investigated the presence of 14 markers expressed by normal LCs in vitro. Nine skin and one lymph node frozen biopsies of LCH children were analysed by in situ immunohistochemistry. The data were compared with six skin and five lymph node frozen biopsies. LCH cells of the ten samples were positive for all 14 LC markers. We observed three different groups of markers, according to the respective staining of normal LCs and LCH cells. Group 1 included DR, DQ, CD1a, CD1c, and ICAM-3. Markers of group 1 were present on the majority of both normal LCs and LCH cells. Group 2 included CD1b, CD4, LFA-1, LFA-3, CD32, and CD68. Markers of group 2 were detected on the majority of LCH cells, but only on a fraction of normal LCs. Group 3 included CD11b, CD24, and B7/BB1. Markers of this group were detected on LCH cells, but not on normal LCs. This in situ immunohistochemical study confirms that LCH cells belong to the LC lineage. The different clinical LCH syndromes had the same immunohistochemical staining. The expression of some markers of groups 2 and 3 is known to be related to the activation of LCs in vitro. Our study suggests that LCH cells are activated LCs.

Antibodies, Monoclonal↗
PubMed1994

[Hereditary epidermolysis bullosa: towards classification and genetic counseling based upon identification of molecular defects].

Inherited epidermolysis bullosa (EB) includes three main types depending on the precise ultrastructural level at which the split responsible for the blistering occurs; 1) simplex EB (SEB) located at the level of the basal cells; 2) junctional EB (JEB) located in the lamina lucida; 3) dystrophic EB (DEB) located in the dermis below the lamina densa at the level of the anchoring fibrils. The authors review the major recent progresses which have led to the identification of the genes and of several molecular defects in these three types, such as: mutations of the genes of keratins 5 and 14 in SEB, molecular defects in the gamma 2 chain gene of nicein/kalinin coding for the anchoring fibrils in JEB, abnormalities of the collagen VII gene coding for the anchoring fibrils in DEB. These data allow to consider a classification of EB based on molecular defects. They also have important consequences for genetic counselling and prenatal diagnosis for the families presenting an affected child.

Cell Adhesion Molecules↗